Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02393:Cdkl4'

293884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdkl4

Ensembl Gene

ENSMUSG00000033966

Gene Name

cyclin dependent kinase like 4

Synonyms

LOC381113

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

80830979-80885242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80867844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 35 (F35L)

Ref Sequence

ENSEMBL: ENSMUSP00000083732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086545]

AlphaFold

Q3TZA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000086545
AA Change: F35L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966
AA Change: F35L

Domain	Start	End	E-Value	Type
S_TKc	4	286	6.65e-102	SMART
low complexity region	295	307	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,410,069 (GRCm39)	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,902,872 (GRCm39)	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,753,179 (GRCm39)	S357R	probably benign	Het
Camsap1	T	C	2: 25,828,334 (GRCm39)	H1130R	probably benign	Het
Crnn	A	G	3: 93,056,675 (GRCm39)	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,576,805 (GRCm39)	P95L	probably damaging	Het
Deaf1	A	T	7: 140,893,246 (GRCm39)	V382E	possibly damaging	Het
Dph7	T	G	2: 24,856,609 (GRCm39)	V187G	possibly damaging	Het
Fat3	G	T	9: 15,899,708 (GRCm39)	C3108*	probably null	Het
Ggt5	T	C	10: 75,446,071 (GRCm39)		probably benign	Het
Kif26a	G	A	12: 112,139,098 (GRCm39)	V396M	probably damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mterf4	C	T	1: 93,230,601 (GRCm39)	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,316,255 (GRCm39)	D32G	probably damaging	Het
Or5k8	A	G	16: 58,644,409 (GRCm39)	I221T	probably damaging	Het
Or6c3	T	C	10: 129,309,064 (GRCm39)	S168P	probably damaging	Het
Or6c65	T	A	10: 129,603,662 (GRCm39)	V99E	probably benign	Het
P3h2	T	C	16: 25,811,575 (GRCm39)	Y216C	probably damaging	Het
Pdzd9	A	C	7: 120,262,206 (GRCm39)	Y85*	probably null	Het
Prkdc	T	A	16: 15,634,622 (GRCm39)	V3589D	probably benign	Het
Qars1	A	G	9: 108,391,528 (GRCm39)	T26A	probably benign	Het
Relch	A	G	1: 105,615,093 (GRCm39)	I253M	probably damaging	Het
Rhd	T	C	4: 134,611,406 (GRCm39)	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,124,817 (GRCm39)	H555L	probably damaging	Het
Rogdi	G	A	16: 4,827,088 (GRCm39)	S306F	probably benign	Het
Slc25a25	C	T	2: 32,307,855 (GRCm39)	V259I	probably benign	Het
Srrm1	A	T	4: 135,048,725 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,840,154 (GRCm39)	V408A	probably benign	Het
Thbs1	T	C	2: 117,953,580 (GRCm39)	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,451,471 (GRCm39)	*280L	probably null	Het
Trim54	A	G	5: 31,289,324 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,672,407 (GRCm39)	R202H	probably damaging	Het
Vwa8	G	A	14: 79,420,417 (GRCm39)	G1706D	probably damaging	Het

Other mutations in Cdkl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Cdkl4	APN	17	80,832,705 (GRCm39)	utr 3 prime	probably benign
IGL01752:Cdkl4	APN	17	80,851,043 (GRCm39)	splice site	probably benign
IGL02000:Cdkl4	APN	17	80,851,192 (GRCm39)	missense	probably damaging	1.00
R0047:Cdkl4	UTSW	17	80,858,274 (GRCm39)	missense	probably benign	0.10
R0507:Cdkl4	UTSW	17	80,851,237 (GRCm39)	missense	probably benign	0.06
R1555:Cdkl4	UTSW	17	80,851,043 (GRCm39)	splice site	probably benign
R1623:Cdkl4	UTSW	17	80,863,731 (GRCm39)	splice site	probably null
R2007:Cdkl4	UTSW	17	80,863,730 (GRCm39)	splice site	probably benign
R4701:Cdkl4	UTSW	17	80,851,081 (GRCm39)	missense	probably damaging	0.97
R4975:Cdkl4	UTSW	17	80,832,764 (GRCm39)	nonsense	probably null
R5246:Cdkl4	UTSW	17	80,846,913 (GRCm39)	splice site	probably null
R5708:Cdkl4	UTSW	17	80,846,951 (GRCm39)	missense	possibly damaging	0.94
R5914:Cdkl4	UTSW	17	80,855,120 (GRCm39)	critical splice donor site	probably null
R6464:Cdkl4	UTSW	17	80,832,781 (GRCm39)	missense	probably benign	0.00
R6882:Cdkl4	UTSW	17	80,851,175 (GRCm39)	missense	probably damaging	0.99
R7176:Cdkl4	UTSW	17	80,851,221 (GRCm39)	nonsense	probably null
R7582:Cdkl4	UTSW	17	80,841,264 (GRCm39)	missense	probably benign	0.42
R8713:Cdkl4	UTSW	17	80,841,292 (GRCm39)	missense	possibly damaging	0.86
R8737:Cdkl4	UTSW	17	80,858,258 (GRCm39)	missense	probably benign	0.01
R9161:Cdkl4	UTSW	17	80,851,120 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdkl4	UTSW	17	80,858,287 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16